Growth delay, and Ichthyosis

Diseases related with Growth delay and Ichthyosis

In the following list you will find some of the most common rare diseases related to Growth delay and Ichthyosis that can help you solving undiagnosed cases.


Top matches:

Low match TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cognitive impairment
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14


Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14 Is also known as krt14-related autosomal recessive ebs|krt14-related autosomal recessive epidermolysis bullosa simplex|ebs-ar krt14|ebs, autosomal recessive k14

Related symptoms:

  • Growth delay
  • Anemia
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM


Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa herpetiformis, dowling-meara type

Related symptoms:

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

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Other less relevant matches:

Low match PEELING SKIN SYNDROME 1; PSS1


Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

PEELING SKIN SYNDROME 1; PSS1 Is also known as pss|keratolysis exfoliativa congenita|deciduous skin|skin peeling, familial continuous generalized

Related symptoms:

  • Short stature
  • Edema
  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 1; PSS1

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match X-LINKED RECESSIVE OCULAR ALBINISM


X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Low match NEU-LAXOVA SYNDROME 2; NLS2


Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Low match TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

Low match TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Low match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Ichthyosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Erythroderma Uncommon - Between 30% and 50% cases
Brittle hair Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Growth delay and Ichthyosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Inflammatory abnormality of the skin Hyperkeratosis Intellectual disability Tiger tail banding Congenital ichthyosiform erythroderma Cutaneous photosensitivity

Rare Symptoms - Less than 30% cases


Congenital nonbullous ichthyosiform erythroderma Nystagmus Neoplasm Psoriasiform dermatitis Delayed skeletal maturation Scaling skin Cataract Abnormality of skin pigmentation Epidermal acanthosis Asthma Global developmental delay Erythema Edema Skin vesicle Palmoplantar hyperkeratosis Anemia Carious teeth Decreased fertility Hypoplasia of dental enamel Milia Atrophic scars Freckling Flexion contracture Sepsis Neoplasm of the skin Congenital cataract High palate Short neck Proptosis Intrauterine growth retardation Abnormality of the pinna Abnormal macular morphology Low-set ears Cleft palate Micrognathia Hypertelorism Scoliosis Depigmented fundus Nystagmus-induced head nodding Giant melanosomes in melanocytes Decreased fetal movement Macular hypoplasia Hypopigmentation of the fundus Abnormal pupil morphology Sloping forehead Bilateral sensorineural hearing impairment Depressed nasal ridge Coxa valga Hypocholesterolemia Immune dysregulation Blepharitis Delayed puberty Arthralgia Intellectual disability, mild Failure to thrive Mild intrauterine growth retardation Long-tract signs Slow-growing hair Coronal craniosynostosis Broad-based gait Rocker bottom foot Ocular albinism Esotropia Microcornea Dry skin Small for gestational age Intellectual disability, moderate Pes cavus Motor delay Joint contracture of the hand Telangiectasia Abnormal cortical gyration Pendular nystagmus Blindness Hypoplasia of the fovea Parakeratosis Weight loss Hyperhidrosis Orthokeratotic hyperkeratosis Angioedema Abnormality of hair texture Increased IgE level Concave nail Hypergranulosis Onycholysis Dystrophic fingernails Ectropion Ectodermal dysplasia Urticaria Fine hair Pruritus Skin rash Alopecia Abnormality of metabolism/homeostasis Nail dysplasia Nail dystrophy Scarring Coarse hair Cognitive impairment Confusion Dehydration Iris hypopigmentation Myopia Congenital nystagmus Blurred vision Albinism Amblyopia High myopia Hypopigmentation of the skin Falls Astigmatism Hypermetropia Nyctalopia Photophobia Visual impairment Skin ulcer Strabismus Conjunctival hamartoma Hypernatremic dehydration Hypernatremia Congenital bullous ichthyosiform erythroderma Generalized hyperkeratosis Disseminated intravascular coagulation Heat intolerance Poor appetite Fragile skin Recurrent skin infections Decreased LDL cholesterol concentration



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